Susanne Roosing
Susanne Roosing
Radboud University Medical Center
Email verificata su - Home page
Citata da
Citata da
Mutations of the CEP290 gene encoding a centrosomal protein cause Meckel‐Gruber syndrome
V Frank, AI den Hollander, NO Brchle, MN Zonneveld, G Nrnberg, ...
Human mutation 29 (1), 45-52, 2008
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders
AAHJ Thiadens, AI den Hollander, S Roosing, SB Nabuurs, ...
The American journal of human genetics 85 (2), 240-247, 2009
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia
S Kohl, D Zobor, WC Chiang, N Weisschuh, J Staller, IG Menendez, ...
Nature genetics 47 (7), 757-765, 2015
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
G Wheway, M Schmidts, DA Mans, K Szymanska, TMT Nguyen, H Racher, ...
Nature cell biology 17 (8), 1074-1087, 2015
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography
AAHJ Thiadens, V Somervuo, LI van den Born, S Roosing, ...
Investigative ophthalmology & visual science 51 (11), 5952-5957, 2010
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia
S Kohl, F Coppieters, F Meire, S Schaich, S Roosing, C Brennenstuhl, ...
The American Journal of Human Genetics 91 (3), 527-532, 2012
Causes and consequences of inherited cone disorders
S Roosing, AAHJ Thiadens, CB Hoyng, CCW Klaver, AI den Hollander, ...
Progress in retinal and eye research 42, 1-26, 2014
Genetic etiology and clinical consequences of complete and incomplete achromatopsia
AAHJ Thiadens, NWR Slingerland, S Roosing, MJ van Schooneveld, ...
Ophthalmology 116 (10), 1984-1989. e1, 2009
Homozygosity mapping in patients with cone–rod dystrophy: novel mutations and clinical characterizations
KW Littink, RK Koenekoop, LI van den Born, RWJ Collin, L Moruz, ...
Investigative ophthalmology & visual science 51 (11), 5943-5951, 2010
Clinical course, genetic etiology, and visual outcome in cone and cone–rod dystrophy
AAHJ Thiadens, TML Phan, RC Zekveld-Vroon, BP Leroy, ...
Ophthalmology 119 (4), 819-826, 2012
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy
S Roosing, K Rohrschneider, A Beryozkin, D Sharon, N Weisschuh, ...
The American Journal of Human Genetics 93 (1), 110-117, 2013
A Novel Homozygous Nonsense Mutation in CABP4 Causes Congenital Cone–Rod Synaptic Disorder
KW Littink, MM van Genderen, RWJ Collin, S Roosing, APM de Brouwer, ...
Investigative ophthalmology & visual science 50 (5), 2344-2350, 2009
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy
AAHJ Thiadens, S Roosing, RWJ Collin, N van Moll-Ramirez, ...
Ophthalmology 117 (4), 825-830. e1, 2010
Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome
S Roosing, M Hofree, S Kim, E Scott, B Copeland, M Romani, JL Silhavy, ...
Elife 4, e06602, 2015
The ciliopathy-associated protein homologs RPGRIP1 and RPGRIP1L are linked to cilium integrity through interaction with Nek4 serine/threonine kinase
KLM Coene, DA Mans, K Boldt, CJ Gloeckner, J van Reeuwijk, E Bolat, ...
Human molecular genetics 20 (18), 3592-3605, 2011
Heterozygous Deep‐Intronic Variants and Deletions in ABCA4 in Persons with Retinal Dystrophies and One Exonic ABCA4 Variant
NM Bax, R Sangermano, S Roosing, AAHJ Thiadens, LH Hoefsloot, ...
Human mutation 36 (1), 43-47, 2015
Disruption of the basal body protein POC1B results in autosomal-recessive cone-rod dystrophy
S Roosing, IJC Lamers, E de Vrieze, LI van den Born, S Lambertus, ...
The American Journal of Human Genetics 95 (2), 131-142, 2014
Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)
L Haer-Wigman, H Newman, R Leibu, NM Bax, HN Baris, L Rizel, E Banin, ...
Human molecular genetics 24 (13), 3742-3751, 2015
Mutations in CEP120 cause Joubert syndrome as well as complex ciliopathy phenotypes
S Roosing, M Romani, M Isrie, RO Rosti, A Micalizzi, D Musaev, T Mazza, ...
Journal of medical genetics 53 (9), 608-615, 2016
Mutations in MFSD8, encoding a lysosomal membrane protein, are associated with nonsyndromic autosomal recessive macular dystrophy
S Roosing, LI van den Born, R Sangermano, S Banfi, RK Koenekoop, ...
Ophthalmology 122 (1), 170-179, 2015
Il sistema al momento non pu eseguire l'operazione. Riprova pi tardi.
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